1 | g.215675563C>A | CA344851193 | USH2A | c.12348G>T (p.Gln4116His)
| |
1 | g.215675563C= | CA1220373983 | USH2A | c.12348G= (p.Gln4116=)
| |
1 | g.215675563C>G | CA1393485 | USH2A | c.12348G>C (p.Gln4116His)
| dbSNP ExAC gnomAD v4 |
1 | g.215675563C>T | CA423311884 | USH2A | c.12348G>A (p.Gln4116=)
| |
1 | g.215675563_215675568del | CA2747717666 | USH2A | c.12343_12348del (p.Arg4115_Gln4116del)
| |
1 | g.215675564T>A | CA344851196 | USH2A | c.12347A>T (p.Gln4116Leu)
| |
1 | g.215675564T>C | CA344851197 | USH2A | c.12347A>G (p.Gln4116Arg)
| |
1 | g.215675564T>G | CA344851199 | USH2A | c.12347A>C (p.Gln4116Pro)
| dbSNP gnomAD v4 |
1 | g.215675564T= | CA1220373984 | USH2A | c.12347A= (p.Gln4116=)
| |
1 | g.215675565G>A | CA344851201 | USH2A | c.12346C>T (p.Gln4116Ter)
| |
1 | g.215675565G>C | CA344851202 | USH2A | c.12346C>G (p.Gln4116Glu)
| |
1 | g.215675565G>T | CA344851203 | USH2A | c.12346C>A (p.Gln4116Lys)
| |
1 | g.215675566A>C | CA423311894 | USH2A | c.12345T>G (p.Arg4115=)
| |
1 | g.215675566A>G | CA423311893 | USH2A | c.12345T>C (p.Arg4115=)
| ClinVar dbSNP |
1 | g.215675566A>T | CA423311895 | USH2A | c.12345T>A (p.Arg4115=)
| |
1 | g.215675567C>A | CA344851207 | USH2A | c.12344G>T (p.Arg4115Leu)
| |
1 | g.215675567C= | CA1220373985 | USH2A | c.12344G= (p.Arg4115=)
| |
1 | g.215675567C>G | CA344851205 | USH2A | c.12344G>C (p.Arg4115Pro)
| |
1 | g.215675567C>T | CA1393486 | USH2A | c.12344G>A (p.Arg4115His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215675568del | CA2747717667 | USH2A | c.12343del (p.Arg4115ValfsTer16)
| |
1 | g.215675568G>A | CA143286 | USH2A | c.12343C>T (p.Arg4115Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.215675568G>C | CA344851208 | USH2A | c.12343C>G (p.Arg4115Gly)
| |
1 | g.215675568G= | CA1141189264 | USH2A | c.12343C= (p.Arg4115=)
| |
1 | g.215675568G>T | CA344851209 | USH2A | c.12343C>A (p.Arg4115Ser)
| |
1 | g.215675569A>C | CA344851211 | USH2A | c.12342T>G (p.Asn4114Lys)
| |
1 | g.215675569A>G | CA423311901 | USH2A | c.12342T>C (p.Asn4114=)
| |
1 | g.215675569A>T | CA344851212 | USH2A | c.12342T>A (p.Asn4114Lys)
| |
1 | g.215675570T>A | CA344851216 | USH2A | c.12341A>T (p.Asn4114Ile)
| |
1 | g.215675570T>C | CA344851213 | USH2A | c.12341A>G (p.Asn4114Ser)
| |
1 | g.215675570T>G | CA344851214 | USH2A | c.12341A>C (p.Asn4114Thr)
| |
1 | g.215675570_215675571del | CA2747717669 | USH2A | c.12340_12341del (p.Asn4114SerfsTer?)
| |
1 | g.215675571_215675572insGTTTT | CA2747717668 | USH2A | c.12341_12342insAACAA (p.Asn4114LysfsTer19)
| |
1 | g.215675571T>A | CA344851217 | USH2A | c.12340A>T (p.Asn4114Tyr)
| |
1 | g.215675571T>C | CA344851218 | USH2A | c.12340A>G (p.Asn4114Asp)
| |
1 | g.215675571T>G | CA344851220 | USH2A | c.12340A>C (p.Asn4114His)
| |
1 | g.215675572C>A | CA344851222 | USH2A | c.12339G>T (p.Leu4113Phe)
| gnomAD v4 |
1 | g.215675572C= | CA1220373986 | USH2A | c.12339G= (p.Leu4113=)
| |
1 | g.215675572C>G | CA344851224 | USH2A | c.12339G>C (p.Leu4113Phe)
| |
1 | g.215675572C>T | CA423311911 | USH2A | c.12339G>A (p.Leu4113=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215675573A>C | CA344851225 | USH2A | c.12338T>G (p.Leu4113Trp)
| |
1 | g.215675573A>G | CA344851226 | USH2A | c.12338T>C (p.Leu4113Ser)
| |
1 | g.215675573A>T | CA344851227 | USH2A | c.12338T>A (p.Leu4113Ter)
| gnomAD v4 |
1 | g.215675574A>C | CA344851228 | USH2A | c.12337T>G (p.Leu4113Val)
| |
1 | g.215675574A>G | CA423311914 | USH2A | c.12337T>C (p.Leu4113=)
| |
1 | g.215675574A>T | CA344851229 | USH2A | c.12337T>A (p.Leu4113Met)
| |
1 | g.215675575A>C | CA423311917 | USH2A | c.12336T>G (p.Gly4112=)
| |
1 | g.215675575A>G | CA423311919 | USH2A | c.12336T>C (p.Gly4112=)
| |
1 | g.215675575A>T | CA423311920 | USH2A | c.12336T>A (p.Gly4112=)
| |
1 | g.215675576C>A | CA344851230 | USH2A | c.12335G>T (p.Gly4112Val)
| |
1 | g.215675576C= | CA1145494942 | USH2A | c.12335G= (p.Gly4112=)
| |
1 | g.215675576C>G | CA1393488 | USH2A | c.12335G>C (p.Gly4112Ala)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215675576C>T | CA1393487 | USH2A | c.12335G>A (p.Gly4112Asp)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.215675577C>A | CA344851232 | USH2A | c.12334G>T (p.Gly4112Cys)
| |
1 | g.215675577C= | CA1142181995 | USH2A | c.12334G= (p.Gly4112=)
| |
1 | g.215675577C>G | CA344851234 | USH2A | c.12334G>C (p.Gly4112Arg)
| |
1 | g.215675577C>T | CA1393489 | USH2A | c.12334G>A (p.Gly4112Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215675578A= | CA1220373987 | USH2A | c.12333T= (p.Ser4111=)
| |
1 | g.215675578A>C | CA423311932 | USH2A | c.12333T>G (p.Ser4111=)
| |
1 | g.215675578A>G | CA37413262 | USH2A | c.12333T>C (p.Ser4111=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215675578A>T | CA423311934 | USH2A | c.12333T>A (p.Ser4111=)
| |
1 | g.215675578dup | CA916082116 | USH2A | c.12333dup (p.Gly4112TrpfsTer?)
| ClinVar dbSNP |
1 | g.215675579G>A | CA143284 | USH2A | c.12332C>T (p.Ser4111Phe)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215675579G>C | CA344851237 | USH2A | c.12332C>G (p.Ser4111Cys)
| |
1 | g.215675579G= | CA1141846177 | USH2A | c.12332C= (p.Ser4111=)
| |
1 | g.215675579G>T | CA344851238 | USH2A | c.12332C>A (p.Ser4111Tyr)
| |
1 | g.215675580A>C | CA344851239 | USH2A | c.12331T>G (p.Ser4111Ala)
| |
1 | g.215675580A>G | CA344851240 | USH2A | c.12331T>C (p.Ser4111Pro)
| |
1 | g.215675580A>T | CA344851241 | USH2A | c.12331T>A (p.Ser4111Thr)
| |
1 | g.215675581G>A | CA423311944 | USH2A | c.12330C>T (p.Tyr4110=)
| ClinVar dbSNP gnomAD v4 |
1 | g.215675581G>C | CA344851243 | USH2A | c.12330C>G (p.Tyr4110Ter)
| |
1 | g.215675581G>T | CA344851244 | USH2A | c.12330C>A (p.Tyr4110Ter)
| COSMIC COSMIC |
1 | g.215675582T>A | CA344851246 | USH2A | c.12329A>T (p.Tyr4110Phe)
| |
1 | g.215675582T>C | CA344851247 | USH2A | c.12329A>G (p.Tyr4110Cys)
| |
1 | g.215675582T>G | CA344851248 | USH2A | c.12329A>C (p.Tyr4110Ser)
| |
1 | g.215675583A= | CA1144558659 | USH2A | c.12328T= (p.Tyr4110=)
| |
1 | g.215675583A>C | CA37413268 | USH2A | c.12328T>G (p.Tyr4110Asp)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.215675583A>G | CA1393490 | USH2A | c.12328T>C (p.Tyr4110His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.215675583A>T | CA344851249 | USH2A | c.12328T>A (p.Tyr4110Asn)
| ClinVar dbSNP |
1 | g.215675584C>A | CA344851252 | USH2A | c.12327G>T (p.Glu4109Asp)
| dbSNP gnomAD v2 |
1 | g.215675584C= | CA1220373988 | USH2A | c.12327G= (p.Glu4109=)
| |
1 | g.215675584C>G | CA344851254 | USH2A | c.12327G>C (p.Glu4109Asp)
| |
1 | g.215675584C>T | CA423311951 | USH2A | c.12327G>A (p.Glu4109=)
| ClinVar dbSNP gnomAD v4 |
1 | g.215675585T>A | CA344851256 | USH2A | c.12326A>T (p.Glu4109Val)
| |
1 | g.215675585T>C | CA344851258 | USH2A | c.12326A>G (p.Glu4109Gly)
| |
1 | g.215675585T>G | CA344851259 | USH2A | c.12326A>C (p.Glu4109Ala)
| |
1 | g.215675586C>A | CA344851260 | USH2A | c.12325G>T (p.Glu4109Ter)
| COSMIC COSMIC |
1 | g.215675586C>G | CA344851262 | USH2A | c.12325G>C (p.Glu4109Gln)
| |
1 | g.215675586C>T | CA344851263 | USH2A | c.12325G>A (p.Glu4109Lys)
| gnomAD v4 COSMIC COSMIC |
1 | g.215675587C>A | CA423311959 | USH2A | c.12324G>T (p.Leu4108=)
| |
1 | g.215675587C>G | CA423311964 | USH2A | c.12324G>C (p.Leu4108=)
| |
1 | g.215675587C>T | CA423311965 | USH2A | c.12324G>A (p.Leu4108=)
| |
1 | g.215675588A>C | CA344851265 | USH2A | c.12323T>G (p.Leu4108Arg)
| gnomAD v4 |
1 | g.215675588A>G | CA344851266 | USH2A | c.12323T>C (p.Leu4108Pro)
| COSMIC COSMIC |
1 | g.215675588A>T | CA344851267 | USH2A | c.12323T>A (p.Leu4108Gln)
| |
1 | g.215675589G>A | CA423311967 | USH2A | c.12322C>T (p.Leu4108=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.215675589G>C | CA344851269 | USH2A | c.12322C>G (p.Leu4108Val)
| |
1 | g.215675589G= | CA1220373989 | USH2A | c.12322C= (p.Leu4108=)
| |
1 | g.215675589G>T | CA344851270 | USH2A | c.12322C>A (p.Leu4108Met)
| |
1 | g.215675590G>A | CA423311968 | USH2A | c.12321C>T (p.Phe4107=)
| ClinVar |
1 | g.215675590G>C | CA344851272 | USH2A | c.12321C>G (p.Phe4107Leu)
| |
1 | g.215675590G>T | CA344851273 | USH2A | c.12321C>A (p.Phe4107Leu)
| |
1 | g.215675591A>C | CA344851274 | USH2A | c.12320T>G (p.Phe4107Cys)
| ClinVar gnomAD v4 |
1 | g.215675591A>G | CA344851277 | USH2A | c.12320T>C (p.Phe4107Ser)
| |
1 | g.215675591A>T | CA344851276 | USH2A | c.12320T>A (p.Phe4107Tyr)
| |
1 | g.215675592A>C | CA344851278 | USH2A | c.12319T>G (p.Phe4107Val)
| |
1 | g.215675592A>G | CA344851281 | USH2A | c.12319T>C (p.Phe4107Leu)
| |
1 | g.215675592A>T | CA344851279 | USH2A | c.12319T>A (p.Phe4107Ile)
| gnomAD v4 |
1 | g.215675592_215675593delinsAC | CA1220373990 | USH2A | c.12318_12319delinsGT (p.Gly4106=)
| |
1 | g.215675594_215675600del | CA2580062348 | USH2A | c.12313_12319del (p.Asp4105SerfsTer7)
| ClinVar |
1 | g.215675592_215675610del | CA2747717670 | USH2A | c.12301_12319del (p.Asn4101SerfsTer7)
| |
1 | g.215675593C>A | CA423311975 | USH2A | c.12318G>T (p.Gly4106=)
| |
1 | g.215675593C= | CA1220373991 | USH2A | c.12318G= (p.Gly4106=)
| |
1 | g.215675593C>G | CA423311976 | USH2A | c.12318G>C (p.Gly4106=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.215675593C>T | CA423311978 | USH2A | c.12318G>A (p.Gly4106=)
| |
1 | g.215675595del | CA529002117 | USH2A | c.12318del (p.Phe4107SerfsTer7)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.215675594C>A | CA344851283 | USH2A | c.12317G>T (p.Gly4106Val)
| |
1 | g.215675594C>G | CA344851284 | USH2A | c.12317G>C (p.Gly4106Ala)
| |
1 | g.215675594C>T | CA344851286 | USH2A | c.12317G>A (p.Gly4106Glu)
| |
1 | g.215675595C>A | CA344851287 | USH2A | c.12316G>T (p.Gly4106Trp)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.215675595C= | CA1220373992 | USH2A | c.12316G= (p.Gly4106=)
| |
1 | g.215675595C>G | CA344851288 | USH2A | c.12316G>C (p.Gly4106Arg)
| |
1 | g.215675595C>T | CA344851290 | USH2A | c.12316G>A (p.Gly4106Arg)
| ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.215675595_215675596del | CA2747717671 | USH2A | c.12315_12316del (p.Asp4105GlufsTer?)
| |
1 | g.215675596G>A | CA1393491 | USH2A | c.12315C>T (p.Asp4105=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215675596G>C | CA344851292 | USH2A | c.12315C>G (p.Asp4105Glu)
| |
1 | g.215675596G= | CA1220373993 | USH2A | c.12315C= (p.Asp4105=)
| |
1 | g.215675596G>T | CA344851293 | USH2A | c.12315C>A (p.Asp4105Glu)
| |
1 | g.215675597T>A | CA344851295 | USH2A | c.12314A>T (p.Asp4105Val)
| |
1 | g.215675597T>C | CA344851296 | USH2A | c.12314A>G (p.Asp4105Gly)
| |
1 | g.215675597T>G | CA344851297 | USH2A | c.12314A>C (p.Asp4105Ala)
| |
1 | g.215675598C>A | CA344851299 | USH2A | c.12313G>T (p.Asp4105Tyr)
| |
1 | g.215675598C>G | CA344851303 | USH2A | c.12313G>C (p.Asp4105His)
| |
1 | g.215675598C>T | CA344851301 | USH2A | c.12313G>A (p.Asp4105Asn)
| gnomAD v4 |
1 | g.215675599A= | CA1220373994 | USH2A | c.12312T= (p.Ser4104=)
| |
1 | g.215675599A>C | CA344851304 | USH2A | c.12312T>G (p.Ser4104Arg)
| dbSNP gnomAD v2 |
1 | g.215675599A>G | CA1393492 | USH2A | c.12312T>C (p.Ser4104=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215675599A>T | CA344851307 | USH2A | c.12312T>A (p.Ser4104Arg)
| |
1 | g.215675600C>A | CA344851309 | USH2A | c.12311G>T (p.Ser4104Ile)
| |
1 | g.215675600C>G | CA344851311 | USH2A | c.12311G>C (p.Ser4104Thr)
| |
1 | g.215675600C>T | CA344851312 | USH2A | c.12311G>A (p.Ser4104Asn)
| |
1 | g.215675601T>A | CA344851314 | USH2A | c.12310A>T (p.Ser4104Cys)
| |
1 | g.215675601T>C | CA344851315 | USH2A | c.12310A>G (p.Ser4104Gly)
| gnomAD v4 |
1 | g.215675601T>G | CA344851316 | USH2A | c.12310A>C (p.Ser4104Arg)
| |
1 | g.215675601_215675602delinsTG | CA1220373995 | USH2A | c.12309_12310delinsCA (p.Phe4103=)
| |
1 | g.215675602del | CA645509093 | USH2A | c.12309del (p.Phe4103LeufsTer11)
| ClinVar dbSNP |
1 | g.215675602G>A | CA423312009 | USH2A | c.12309C>T (p.Phe4103=)
| |
1 | g.215675602G>C | CA344851318 | USH2A | c.12309C>G (p.Phe4103Leu)
| |
1 | g.215675602G>T | CA344851317 | USH2A | c.12309C>A (p.Phe4103Leu)
| |
1 | g.215675603A>C | CA344851320 | USH2A | c.12308T>G (p.Phe4103Cys)
| |
1 | g.215675603A>G | CA344851322 | USH2A | c.12308T>C (p.Phe4103Ser)
| |
1 | g.215675603A>T | CA344851323 | USH2A | c.12308T>A (p.Phe4103Tyr)
| gnomAD v4 |
1 | g.215675604A>C | CA344851325 | USH2A | c.12307T>G (p.Phe4103Val)
| |
1 | g.215675604A>G | CA344851326 | USH2A | c.12307T>C (p.Phe4103Leu)
| |
1 | g.215675604A>T | CA344851328 | USH2A | c.12307T>A (p.Phe4103Ile)
| |
1 | g.215675605G>A | CA423312014 | USH2A | c.12306C>T (p.Ile4102=)
| |
1 | g.215675605G>C | CA344851330 | USH2A | c.12306C>G (p.Ile4102Met)
| ClinVar dbSNP |
1 | g.215675605G>T | CA423312017 | USH2A | c.12306C>A (p.Ile4102=)
| |
1 | g.215675606A>C | CA344851331 | USH2A | c.12305T>G (p.Ile4102Ser)
| |
1 | g.215675606A>G | CA344851333 | USH2A | c.12305T>C (p.Ile4102Thr)
| |
1 | g.215675606A>T | CA344851334 | USH2A | c.12305T>A (p.Ile4102Asn)
| ClinVar |
1 | g.215675606_215675609delinsATGT | CA1220373996 | USH2A | c.12302_12305delinsACAT (p.Asn4101=)
| |
1 | g.215675607T>A | CA344851335 | USH2A | c.12304A>T (p.Ile4102Phe)
| |
1 | g.215675607T>C | CA1393493 | USH2A | c.12304A>G (p.Ile4102Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215675607T>G | CA344851338 | USH2A | c.12304A>C (p.Ile4102Leu)
| |
1 | g.215675607T= | CA1144187467 | USH2A | c.12304A= (p.Ile4102=)
| |
1 | g.215675610_215675612del | CA916082117 | USH2A | c.12302_12304del (p.Asn4101del)
| ClinVar dbSNP gnomAD v4 |
1 | g.215675608G>A | CA1393494 | USH2A | c.12303C>T (p.Asn4101=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215675608G>C | CA344851341 | USH2A | c.12303C>G (p.Asn4101Lys)
| |
1 | g.215675608G= | CA1220373997 | USH2A | c.12303C= (p.Asn4101=)
| |
1 | g.215675608G>T | CA344851339 | USH2A | c.12303C>A (p.Asn4101Lys)
| |
1 | g.215675609T>A | CA1393495 | USH2A | c.12302A>T (p.Asn4101Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.215675609T>C | CA37413281 | USH2A | c.12302A>G (p.Asn4101Ser)
| dbSNP gnomAD v4 |
1 | g.215675609T>G | CA344851344 | USH2A | c.12302A>C (p.Asn4101Thr)
| |
1 | g.215675609T= | CA1144115369 | USH2A | c.12302A= (p.Asn4101=)
| |
1 | g.215675610T>A | CA344851346 | USH2A | c.12301A>T (p.Asn4101Tyr)
| |
1 | g.215675610T>C | CA344851348 | USH2A | c.12301A>G (p.Asn4101Asp)
| |
1 | g.215675610T>G | CA344851350 | USH2A | c.12301A>C (p.Asn4101His)
| gnomAD v4 |
1 | g.215675611G>A | CA423312038 | USH2A | c.12300C>T (p.Tyr4100=)
| gnomAD v4 |
1 | g.215675611G>C | CA344851351 | USH2A | c.12300C>G (p.Tyr4100Ter)
| ClinVar dbSNP gnomAD v4 |
1 | g.215675611G= | CA1220373998 | USH2A | c.12300C= (p.Tyr4100=)
| |
1 | g.215675611G>T | CA344851353 | USH2A | c.12300C>A (p.Tyr4100Ter)
| ClinVar dbSNP gnomAD v4 |
1 | g.215675612T>A | CA344851355 | USH2A | c.12299A>T (p.Tyr4100Phe)
| |
1 | g.215675612T>C | CA344851356 | USH2A | c.12299A>G (p.Tyr4100Cys)
| dbSNP |
1 | g.215675612T>G | CA344851357 | USH2A | c.12299A>C (p.Tyr4100Ser)
| |
1 | g.215675612T= | CA1220373999 | USH2A | c.12299A= (p.Tyr4100=)
| |
1 | g.215675613A= | CA1220374000 | USH2A | c.12298T= (p.Tyr4100=)
| |
1 | g.215675613A>C | CA344851361 | USH2A | c.12298T>G (p.Tyr4100Asp)
| |
1 | g.215675613A>G | CA344851362 | USH2A | c.12298T>C (p.Tyr4100His)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.215675613A>T | CA344851359 | USH2A | c.12298T>A (p.Tyr4100Asn)
| |
1 | g.215675614T>A | CA423312049 | USH2A | c.12297A>T (p.Thr4099=)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.215675614T>C | CA423312050 | USH2A | c.12297A>G (p.Thr4099=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.215675614T>G | CA423312051 | USH2A | c.12297A>C (p.Thr4099=)
| |
1 | g.215675614T= | CA1220374001 | USH2A | c.12297A= (p.Thr4099=)
| |
1 | g.215675614_215675615insAGA | CA2747717672 | USH2A | c.12296_12297insTCT (p.Thr4099_Tyr4100insLeu)
| |
1 | g.215675615G>A | CA344851367 | USH2A | c.12296C>T (p.Thr4099Ile)
| |
1 | g.215675615G>C | CA344851364 | USH2A | c.12296C>G (p.Thr4099Arg)
| |
1 | g.215675615G>T | CA344851365 | USH2A | c.12296C>A (p.Thr4099Lys)
| |
1 | g.215675615_215675620del | CA2747717673 | USH2A | c.12295-4_12296del
| |
1 | g.215675616T>A | CA344851369 | USH2A | c.12295A>T (p.Thr4099Ser)
| |
1 | g.215675616T>C | CA344851370 | USH2A | c.12295A>G (p.Thr4099Ala)
| gnomAD v4 |
1 | g.215675616T>G | CA344851371 | USH2A | c.12295A>C (p.Thr4099Pro)
| gnomAD v4 |
1 | g.215675617C>A | CA344851372 | USH2A | c.12295-1G>T (n.12295-1G>T)
| |
1 | g.215675617C>G | CA344851373 | USH2A | c.12295-1G>C (n.12295-1G>C)
| |
1 | g.215675617C>T | CA344851374 | USH2A | c.12295-1G>A (n.12295-1G>A)
| |
1 | g.215675618T>A | CA344851376 | USH2A | c.12295-2A>T (n.12295-2A>T)
| |
1 | g.215675618T>C | CA262074 | USH2A | c.12295-2A>G (n.12295-2A>G)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215675618T>G | CA344851378 | USH2A | c.12295-2A>C (n.12295-2A>C)
| |
1 | g.215675618T= | CA1142409510 | USH2A | c.12295-2A= (n.12295-2A=)
| |
1 | g.215675619A= | CA1141189265 | USH2A | c.12295-3T= (n.12295-3T=)
| |
1 | g.215675619A>G | CA1220374002 | USH2A | c.12295-3T>C (n.12295-3T>C)
| dbSNP |
1 | g.215675619A>T | CA143283 | USH2A | c.12295-3T>A (n.12295-3T>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215675620del | CA2747717674 | USH2A | c.12295-4del (n.12295-4del)
| |
1 | g.215675623_215675625del | CA2650500728 | USH2A | c.12295-7_12295-5del (n.12295-7_12295-5del)
| gnomAD v4 |
1 | g.215675622G>A | CA2739275676 | USH2A | c.12295-6C>T (n.12295-6C>T)
| ClinVar |
1 | g.215675622G>T | CA2747717675 | USH2A | c.12295-6C>A (n.12295-6C>A)
| |
1 | g.215675623A= | CA1220374003 | USH2A | c.12295-7T= (n.12295-7T=)
| |
1 | g.215675623A>T | CA1220374004 | USH2A | c.12295-7T>A (n.12295-7T>A)
| dbSNP |
1 | g.215675624A>G | CA2499214461 | USH2A | c.12295-8T>C (n.12295-8T>C)
| ClinVar dbSNP |
1 | g.215675624A>T | CA2519577038 | USH2A | c.12295-8T>A (n.12295-8T>A)
| |
1 | g.215675625G>C | CA529002118 | USH2A | c.12295-9C>G (n.12295-9C>G)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.215675625G= | CA1220374005 | USH2A | c.12295-9C= (n.12295-9C=)
| |
1 | g.215675626G>A | CA2739275677 | USH2A | c.12295-10C>T (n.12295-10C>T)
| ClinVar |
1 | g.215675626G>C | CA2580062349 | USH2A | c.12295-10C>G (n.12295-10C>G)
| ClinVar gnomAD v4 |
1 | g.215675628C>T | CA2697554904 | USH2A | c.12295-12G>A (n.12295-12G>A)
| ClinVar |
1 | g.215675629A>G | CA2697554905 | USH2A | c.12295-13T>C (n.12295-13T>C)
| ClinVar |
1 | g.215675630G>C | CA2650500734 | USH2A | c.12295-14C>G (n.12295-14C>G)
| gnomAD v4 |
1 | g.215675631A>G | CA2650500735 | USH2A | c.12295-15T>C (n.12295-15T>C)
| gnomAD v4 |
1 | g.215675631A>T | CA2747717676 | USH2A | c.12295-15T>A (n.12295-15T>A)
| |
1 | g.215675632A= | CA1220374006 | USH2A | c.12295-16T= (n.12295-16T=)
| |
1 | g.215675632A>G | CA37413288 | USH2A | c.12295-16T>C (n.12295-16T>C)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.215675633_215675635del | CA2747717677 | USH2A | c.12295-18_12295-16del (n.12295-18_12295-16del)
| |
1 | g.215675633G>A | CA731337804 | USH2A | c.12295-17C>T (n.12295-17C>T)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.215675633G= | CA1220374007 | USH2A | c.12295-17C= (n.12295-17C=)
| |
1 | g.215675633_215675634insA | CA529002119 | USH2A | c.12295-18_12295-17insT (n.12295-18_12295-17insT)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.215675634C>A | CA37413291 | USH2A | c.12295-18G>T (n.12295-18G>T)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.215675634C= | CA1143992730 | USH2A | c.12295-18G= (n.12295-18G=)
| |
1 | g.215675634C>G | CA1393496 | USH2A | c.12295-18G>C (n.12295-18G>C)
| dbSNP ExAC gnomAD v3 gnomAD v4 |
1 | g.215675634C>T | CA2650500741 | USH2A | c.12295-18G>A (n.12295-18G>A)
| gnomAD v4 |
1 | g.215675634_215675636del | CA2747717678 | USH2A | c.12295-20_12295-18del (n.12295-20_12295-18del)
| |
1 | g.215675635A>G | CA2740223354 | USH2A | c.12295-19T>C (n.12295-19T>C)
| |
1 | g.215675636_215675638del | CA2747717679 | USH2A | c.12295-21_12295-19del (n.12295-21_12295-19del)
| |
1 | g.215675637A>G | CA2747717680 | USH2A | c.12295-21T>C (n.12295-21T>C)
| |
1 | g.215675638A>C | CA2747717681 | USH2A | c.12295-22T>G (n.12295-22T>G)
| |
1 | g.215675641del | CA2747717682 | USH2A | c.12295-23del (n.12295-23del)
| |
1 | g.215675640_215675641del | CA2747717683 | USH2A | c.12295-24_12295-23del (n.12295-24_12295-23del)
| |
1 | g.215675639_215675640insACT | CA2747717685 | USH2A | c.12295-24_12295-23insAGT (n.12295-24_12295-23insAGT)
| |
1 | g.215675639_215675640insACAC | CA2747717684 | USH2A | c.12295-24_12295-23insGTGT (n.12295-24_12295-23insGTGT)
| |
1 | g.215675640G>A | CA2747717686 | USH2A | c.12295-24C>T (n.12295-24C>T)
| |
1 | g.215675640G>T | CA2747717687 | USH2A | c.12295-24C>A (n.12295-24C>A)
| |
1 | g.215675640_215675641insAC | CA2747717688 | USH2A | c.12295-25_12295-24insGT (n.12295-25_12295-24insGT)
| |
1 | g.215675641G= | CA1220374008 | USH2A | c.12295-25C= (n.12295-25C=)
| |
1 | g.215675641G>T | CA529002120 | USH2A | c.12295-25C>A (n.12295-25C>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215675641_215675644del | CA2747717689 | USH2A | c.12295-28_12295-25del (n.12295-28_12295-25del)
| |
1 | g.215675643_215675644del | CA2747717690 | USH2A | c.12295-27_12295-26del (n.12295-27_12295-26del)
| |
1 | g.215675643T>C | CA2650500742 | USH2A | c.12295-27A>G (n.12295-27A>G)
| gnomAD v4 |
1 | g.215675643T>G | CA2747717691 | USH2A | c.12295-27A>C (n.12295-27A>C)
| |
1 | g.215675644A= | CA1220374010 | USH2A | c.12295-28T= (n.12295-28T=)
| |
1 | g.215675644A>C | CA1393497 | USH2A | c.12295-28T>G (n.12295-28T>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.215675645dup | CA2747717692 | USH2A | c.12295-28dup (n.12295-28dup)
| |
1 | g.215675644_215675648delinsAACTT | CA1220374009 | USH2A | c.12295-32_12295-28delinsAAGTT (n.12295-32_12295-28delinsAAGTT)
| |
1 | g.215675645A>T | CA2747717693 | USH2A | c.12295-29T>A (n.12295-29T>A)
| |
1 | g.215675645_215675648del | CA731337821 | USH2A | c.12295-32_12295-29del (n.12295-32_12295-29del)
| dbSNP |
1 | g.215675646C>G | CA2747717694 | USH2A | c.12295-30G>C (n.12295-30G>C)
| |
1 | g.215675647T>A | CA2747717696 | USH2A | c.12295-31A>T (n.12295-31A>T)
| |
1 | g.215675647T>C | CA1393498 | USH2A | c.12295-31A>G (n.12295-31A>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215675647T= | CA1144190516 | USH2A | c.12295-31A= (n.12295-31A=)
| |
1 | g.215675647_215675648del | CA2747717695 | USH2A | c.12295-32_12295-31del (n.12295-32_12295-31del)
| |
1 | g.215675647_215675648insAGA | CA2747717697 | USH2A | c.12295-32_12295-31insTCT (n.12295-32_12295-31insTCT)
| |
1 | g.215675648T>C | CA2650500746 | USH2A | c.12295-32A>G (n.12295-32A>G)
| gnomAD v4 |
1 | g.215675648T>G | CA2650500747 | USH2A | c.12295-32A>C (n.12295-32A>C)
| gnomAD v4 |
1 | g.215675649G>A | CA731337825 | USH2A | c.12295-33C>T (n.12295-33C>T)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.215675649G= | CA1220374011 | USH2A | c.12295-33C= (n.12295-33C=)
| |
1 | g.215675649G>T | CA2650500748 | USH2A | c.12295-33C>A (n.12295-33C>A)
| gnomAD v4 |
1 | g.215675650C>T | CA2650500749 | USH2A | c.12295-34G>A (n.12295-34G>A)
| gnomAD v4 |
1 | g.215675650_215675655del | CA2747717698 | USH2A | c.12295-39_12295-34del (n.12295-39_12295-34del)
| |
1 | g.215675651A>G | CA2574132924 | USH2A | c.12295-35T>C (n.12295-35T>C)
| gnomAD v4 |
1 | g.215675651_215675652insCAG | CA2747717699 | USH2A | c.12295-36_12295-35insCTG (n.12295-36_12295-35insCTG)
| |
1 | g.215675652_215675653del | CA2747717700 | USH2A | c.12295-37_12295-36del (n.12295-37_12295-36del)
| |
1 | g.215675653del | CA2747717701 | USH2A | c.12295-37del (n.12295-37del)
| |
1 | g.215675654A= | CA1220374012 | USH2A | c.12295-38T= (n.12295-38T=)
| |
1 | g.215675654A>G | CA529002121 | USH2A | c.12295-38T>C (n.12295-38T>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215675655T>A | CA2574132925 | USH2A | c.12295-39A>T (n.12295-39A>T)
| |
1 | g.215675655T>C | CA1393499 | USH2A | c.12295-39A>G (n.12295-39A>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.215675655T>G | CA2747717702 | USH2A | c.12295-39A>C (n.12295-39A>C)
| |
1 | g.215675655T= | CA1220374013 | USH2A | c.12295-39A= (n.12295-39A=)
| |
1 | g.215675657C>A | CA2574132927 | USH2A | c.12295-41G>T (n.12295-41G>T)
| gnomAD v4 |
1 | g.215675657C= | CA1220374014 | USH2A | c.12295-41G= (n.12295-41G=)
| |
1 | g.215675657C>G | CA2650500753 | USH2A | c.12295-41G>C (n.12295-41G>C)
| gnomAD v4 |
1 | g.215675657C>T | CA529002122 | USH2A | c.12295-41G>A (n.12295-41G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215675658A>C | CA2650500758 | USH2A | c.12295-42T>G (n.12295-42T>G)
| gnomAD v4 |
1 | g.215675658A>T | CA2650500759 | USH2A | c.12295-42T>A (n.12295-42T>A)
| gnomAD v4 |
1 | g.215675659A= | CA1220374015 | USH2A | c.12295-43T= (n.12295-43T=)
| |
1 | g.215675659A>G | CA1012179370 | USH2A | c.12295-43T>C (n.12295-43T>C)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.215675660_215675661insAC | CA2747717703 | USH2A | c.12295-45_12295-44insGT (n.12295-45_12295-44insGT)
| |
1 | g.215675661T>C | CA1393500 | USH2A | c.12295-45A>G (n.12295-45A>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215675661T= | CA1141340674 | USH2A | c.12295-45A= (n.12295-45A=)
| |
1 | g.215675662_215675668del | CA2747717704 | USH2A | c.12295-51_12295-45del (n.12295-51_12295-45del)
| |
1 | g.215675662_215675670del | CA2747717705 | USH2A | c.12295-53_12295-45del (n.12295-53_12295-45del)
| |
1 | g.215675662_215675663insA | CA2747717706 | USH2A | c.12295-47_12295-46insT (n.12295-47_12295-46insT)
| |
1 | g.215675662_215675663insAC | CA2747717707 | USH2A | c.12295-47_12295-46insGT (n.12295-47_12295-46insGT)
| |
1 | g.215675663C>A | CA529002123 | USH2A | c.12295-47G>T (n.12295-47G>T)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.215675663C= | CA1220374016 | USH2A | c.12295-47G= (n.12295-47G=)
| |